A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15811995



Internal ID2258831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13143140..13144148hg38UCSC Ensembl
Innerchr18:13143141..13144147hg38UCSC Ensembl
Outerchr18:13143139..13144149hg38UCSC Ensembl
chr18:13143139..13144147hg19UCSC Ensembl
Innerchr18:13143140..13144146hg19UCSC Ensembl
Outerchr18:13143138..13144148hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381009
hg191009
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641851
Supporting Variants
SamplesHG02020
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15811995
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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